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Slc26a4 Gene Detail
Summary
  • Symbol
    Slc26a4
  • Name
    solute carrier family 26, member 4
  • Synonyms
    Pds, pendrin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1346029
    NCBI Gene: 23985
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:31569826-31609968 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 13.53 cM, cytoband B1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1136 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1346029
 protein coding gene Chr12:31569813-31610054 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019662
 protein coding gene Chr12:29477161-29518997 (-)
A/J MGP_AJ_G0019629
 protein coding gene Chr12:28637265-28679399 (-)
AKR/J MGP_AKRJ_G0019600
 protein coding gene Chr12:29556673-29600138 (-)
BALB/cJ MGP_BALBcJ_G0019606
 protein coding gene Chr12:28861336-28902029 (-)
C3H/HeJ MGP_C3HHeJ_G0019410
 protein coding gene Chr12:29424205-29466561 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020053
 protein coding gene Chr12:30380775-30428092 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017678
 protein coding gene Chr12:27923330-27963762 (-)
CAST/EiJ MGP_CASTEiJ_G0018965
 protein coding gene Chr12:24414205-24464191 (-)
CBA/J MGP_CBAJ_G0019382
 protein coding gene Chr12:31357494-31410618 (-)
DBA/2J MGP_DBA2J_G0019495
 protein coding gene Chr12:28470374-28511383 (-)
FVB/NJ MGP_FVBNJ_G0019486
 protein coding gene Chr12:28264101-28304747 (-)
LP/J MGP_LPJ_G0019565
 protein coding gene Chr12:29569561-29610388 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019521
 protein coding gene Chr12:31017455-31061624 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020093
 protein coding gene Chr12:29074783-29117949 (-)
PWK/PhJ MGP_PWKPhJ_G0018732
 protein coding gene Chr12:23192733-23237036 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018520
 protein coding gene Chr12:23666248-23705234 (-)
WSB/EiJ MGP_WSBEiJ_G0019015
 protein coding gene Chr12:29312068-29355907 (-)



Homology
more
  • Human Ortholog
    SLC26A4, solute carrier family 26 member 4
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC26A4, solute carrier family 26 member 4
  • Synonyms
    DFNB4, EVA, PDS, TDH2B
  • Links
    NCBI Gene ID: 5172
    neXtProt AC: NX_O43511
    UniProt: O43511

  • Chr Location
    7q22.3; chr7:107660828-107717809 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Slc26a4 mouse models; 3 with human SLC26A4 associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    93 phenotypes from 9 alleles in 12 genetic backgrounds
    1 phenotype from multigenic genotypes
    11 images
    78 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous null mutants are completely deaf with vestibular dysfunction. Mutants show endolymphatic dilatation, degeneration of sensory cells and malformations of otoconia and otoconial membranes. They display unsteady gait and circling and head bobbing.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    38
  • GO References
    15
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    778
  • Tissues
    47
  • cDNA Data
    10
  • Literature Summary
    36
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000020651 Ensembl Gene Model | MGI Sequence Detail 40143 C57BL/6J ±  kb
    transcript ENSMUST00000001253 Ensembl | MGI Sequence Detail 3075 Not Applicable  
    polypeptide ENSMUSP00000001253 Ensembl | MGI Sequence Detail 780 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 12
      cDNA 10
      Primer pair 2

      Microarray probesets 2
    References
    more
    • Summaries
      All 147
      Developmental Gene Expression 36
      Diseases 7
      Gene Ontology 15
      Phenotypes 78
    • Earliest
      J:57104 Everett LA, et al., Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear. Proc Natl Acad Sci U S A. 1999 Aug 17;96(17):9727-32
    • Latest
      J:352715 Kang HS, et al., GLIS3 expression in the thyroid gland in relation to TSH signaling and regulation of gene expression. Cell Mol Life Sci. 2024 Jan 28;81(1):65
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory